Hs05579258_cn

• Gene Symbol: PES1
• Assay Reference Genome Location: Chr.22:30577234 on build GRCh38
• Cytoband: 22q12.2

Target Gene Details

• Entrez Gene ID: 23481
• Gene Name: pescadillo ribosomal biogenesis factor 1
• Gene Aliases: PES
• Location: Chr.22:30576625-30607013 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PES1	NM_001243225.1			NP_001230154.1
	NM_001282327.1			NP_001269256.1
	NM_001282328.1			NP_001269257.1
	NM_014303.3			NP_055118.1
	XM_006724173.1			XP_006724236.1
	XM_017028678.1			XP_016884167.1
	AB451380.1
	AK096320.1
	AK125778.1			BAC86285.1
	AK127185.1
	AK315518.1
	BC032489.1			AAH32489.1
	BQ576244.1
	CR456539.1			CAG30425.1
	U78310.1			AAB61140.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv588887	Chr.22:30557534 - 30599369 on Build GRCh38	Loss	PES1 GAL3ST1
nsv829171	Chr.22:30202041 - 30647591 on Build GRCh38	Loss	SF3A1 LIF GATSL3 HORMAD2 TBC1D10A SDC4P SLC35E4 SEC14L4 MTFP1 SEC14L2 CCDC157 RNF215 MGC20647 KIAA1656 PES1 SEC14L6 OSM SEC14L3 GAL3ST1 TCN2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA metabolism protein

Gene Ontology Categories:

Process(es)

maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
rRNA processing
nucleolus organization
cell proliferation
protein localization to organelle
ribosomal large subunit biogenesis
regulation of cell cycle

Function(s)

RNA binding
protein binding
ribonucleoprotein complex binding
poly(A) RNA binding